(Q26774987)

7

0 references

author name string

Chiara Simone

1

0 references

Agnese Ramirez

2

0 references

Monica Bucchia

3

0 references

Paola Rinchetti

4

0 references

Hardy Rideout

5

0 references

Dimitra Papadimitriou

Cellular and Molecular Life Sciences

6

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language of work or name

English

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publication date

March 2016

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published in

0 references

volume

73

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issue

5

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page(s)

1003-20

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cites work

Spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

7 April 2017

The astrocyte odyssey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Wrapping it up: the cell biology of myelination

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

A large animal model of spinal muscular atrophy and correction of phenotype

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Does neuroinflammation fan the flame in neurodegenerative diseases?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Trk receptors: roles in neuronal signal transduction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Abnormal fatty acid metabolism in childhood spinal muscular atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Cardiac defects contribute to the pathology of spinal muscular atrophy models

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Medical considerations of long-term survival of Werdnig-Hoffmann disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

S100: a multigenic family of calcium-modulated proteins of the EF-hand type with intracellular and extracellular functional roles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Astrocytes influence the severity of spinal muscular atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Spinal muscular atrophy: from tissue specificity to therapeutic strategies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Spectrum of neuropathophysiology in spinal muscular atrophy type I

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Advances in therapeutic development for spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Sensory neurons do not induce motor neuron loss in a human stem cell model of spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Epitope-based DNA vaccine for Alzheimer's disease: translational study in macaques

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Intramuscular scAAV9-SMN injection mediates widespread gene delivery to the spinal cord and decreases disease severity in SMA mice.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Spinal muscular atrophy: going beyond the motor neuron

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Preservation of VGLUT1 synapses on ventral calbindin-immunoreactive interneurons and normal locomotor function in a mouse model of spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

SMN is required for sensory-motor circuit function in Drosophila

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Glucose metabolism and pancreatic defects in spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Schwann cell myelination requires integration of laminin activities

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Decreasing disease severity in symptomatic, Smn(-/-);SMN2(+/+), spinal muscular atrophy mice following scAAV9-SMN delivery

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Regulation of synaptic connectivity by glia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Signaling pathways that mediate nerve growth factor-induced increase in expression and release of calcitonin gene-related peptide from sensory neurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Gliotransmission: Exocytotic release from astrocytes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Vascular perfusion abnormalities in infants with spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Regulation of Schwann cell function by the extracellular matrix.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Adaptive immune neuroprotection in G93A-SOD1 amyotrophic lateral sclerosis mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Embryonic motor axon development in the severe SMA mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Molecular mechanisms of spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Cardiac involvement in Kugelberg-Welander disease: a case report and review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

VEGF at the neurovascular interface: therapeutic implications for motor neuron disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Innate immunity in amyotrophic lateral sclerosis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

The Rho family of small GTPases: crucial regulators of skeletal myogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Astrocyte activation and reactive gliosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Microglia as potential contributors to motor neuron injury in amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Neuroinflammation in Alzheimer's disease and prion disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Inflammatory processes in amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Control of synapse number by glia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Glia-to-neuron signaling and the neuroendocrine control of female puberty

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Gene targeting restricted to mouse striated muscle lineage

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Valproate-associated pancreatitis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Cardiac involvement in the Kugelberg-Welander syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

An SMN-dependent U12 splicing event essential for motor circuit function

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Expression of Ciliary Neurotrophic Factor and the Neurotrophins-Nerve Growth Factor, Brain-Derived Neurotrophic Factor and Neurotrophin 3-in Cultured Rat Hippocampal Astrocytes

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Reactive astrocytes: cellular and molecular cues to biological function

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Glial bundle formation in spinal roots following experimental neuronopathy

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Type 0 spinal muscular atrophy with multisystem involvement.

31 May 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Temporally regulated and tissue-specific gene manipulations in the adult and embryonic heart using a tamoxifen-inducible Cre protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Early effects of carbachol on the morphology of motor endplates of mammalian skeletal muscle fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

SP600125, a new JNK inhibitor, protects dopaminergic neurons in the MPTP model of Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Mechanisms involved in spinal cord central synapse loss in a mouse model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Chronic treatment with lithium does not improve neuromuscular phenotype in a mouse model of severe spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

The phagocytic capacity of neurones

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

A grounded theory investigation of life experience and the role of social support for adolescent offspring after parental brain injury.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Nitric oxide induces pathological synapse loss by a protein kinase G-, Rho kinase-dependent mechanism preceded by myosin light chain phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Erbb2 regulates neuromuscular synapse formation and is essential for muscle spindle development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Sphingosine 1-phosphate induces cell contraction via calcium-independent/Rho-dependent pathways in undifferentiated skeletal muscle cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Impaired blood-brain/spinal cord barrier in ALS patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Severe spinal muscular atrophy variant associated with congenital bone fractures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Hypercalcaemia in infancy; a presenting feature of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Microdissection study of the myenteric plexus in acardia, ataxia-telangiectasia, cystic fibrosis, extrahepatic biliary atresia, pediatric AIDS and Werdnig-Hoffmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

[Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood]

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Quantitative analysis of the human alpha-skeletal actin gene in transgenic mice.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756905

Label-Free Quantitative Proteomic Profiling Identifies Disruption of Ubiquitin Homeostasis As a Key Driver of Schwann Cell Defects in Spinal Muscular Atrophy

28 November 2018

1 reference

12 December 2020

[Electromyographic study of 50 cases of Werdnig-Hoffmann disease]

1 reference

12 December 2020

[Cardiac involvement in Kugelberg-Welander disease. A prospective study of 8 cases]

1 reference

12 December 2020

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

12 December 2020

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

1 reference

12 December 2020

Type I Spinal Muscular Atrophy Can Mimic Sensory-Motor Axonal Neuropathy

1 reference

12 December 2020

Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy

1 reference

12 December 2020

Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity

1 reference

12 December 2020

Coincident thresholds of mutant protein for paralytic disease and protein aggregation caused by restrictively expressed superoxide dismutase cDNA

1 reference

12 December 2020

Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy

1 reference

12 December 2020

Cardiac involvement in Werdnig-Hoffmann's spinal muscular atrophy

1 reference

12 December 2020

Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature

1 reference

12 December 2020

MEK inhibitor, U0126, attenuates cisplatin-induced renal injury by decreasing inflammation and apoptosis

1 reference

12 December 2020

Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology

1 reference

12 December 2020

Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy

1 reference

12 December 2020

A case of the Kugelberg-Welander syndrome complicated with cardiac lesions

1 reference

12 December 2020

A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems

1 reference

12 December 2020

Intestinal pseudo-obstruction in adult spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

7 January 2021

inferred from DOI database lookup

Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1007%2FS00018-015-2106-9

7 January 2021